A recent paper in Science offers an excellent review of the “broad and multifaceted spectrum of activities in human cancer” played by pseudogenes. I intend to review the paper for Evolution News & Views so I will reserve my more detailed comments for there. Here, I offer a couple of highlights.
From the abstract:
Because they are generally noncoding and thus considered nonfunctional and unimportant, pseudogenes have long been neglected. Recent advances have established that the DNA of a pseudogene, the RNA transcribed from a pseudogene, or the protein translated from a pseudogene can have multiple, diverse functions and that these functions can affect not only their parental genes but also unrelated genes. Therefore, pseudogenes have emerged as a previously unappreciated class of sophisticated modulators of gene expression, with a multifaceted involvement in the pathogenesis of human cancer.
The paper concludes,
The function of the great fraction of the human genome (98%) composed of sequences that do not encode proteins remains a mystery. Pseudogenes are technically part of this fraction, and the examples described here clearly demonstrate that they perform a broad and multifaceted spectrum of activities in human cancer. Therefore, the name pseudogenes, which underlies their close sequence similarity with parental counter-parts, should not imply a negative connotation. They might be “pseudo” genes because they do not encode a protein or because they encode a protein that does not function in the same way as that encoded by their cognate genes. Nonetheless, they are functionally disabled but can perform different functions than their parental gene counterparts.
The overall paper contains a lot of fascinating material and extensive references. I hope to review this material in more detail shortly. In the meantime, you can download the full paper here!